Article
Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis.
Blood - 1 Mar 1993
Okajima K, Abe H, Maeda S, Motomura M, Tsujihata M, Nagataki S, Okabe H, Takatsuki K
Abstract excerpt
A novel variant of antithrombin III (AT III) that lacks affinity for heparin was found in a 33-year-old man who suffered from recurrent cerebral infarction. The propositus had a history of recurrent ischemic attacks from the age of 28. He was obese and had a smoking habit (30 to 40 cigarettes/day...
Topics
- Adult
- Antithrombin III
- Antithrombin III Deficiency
- Base Sequence
- Cloning, Molecular
- Factor Xa Inhibitors
- Female
- Heparin
- Heterozygote
- Humans
- Intracranial Embolism and Thrombosis
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Thrombin